Canonical Allele Identifier: CA2499216057

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1054767
• ClinVar RCV Id: RCV001363335
• dbSNP Id: rs2104336676

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475050_47475055del , CM000664.2:g.47475050_47475055del	GRCh38
NC_000002.11:g.47702189_47702194del , CM000664.1:g.47702189_47702194del	GRCh37
NC_000002.10:g.47555693_47555698del	NCBI36
NG_007110.2:g.76927_76932del , LRG_218:g.76927_76932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1785_1790del	ENSP00000495641.2:p.Asn596_Asp597del
ENST00000233146.7:c.1785_1790del MANE Select	ENSP00000233146.2:p.Asn596_Asp597del
ENST00000543555.6:c.1587_1592del	ENSP00000442697.1:p.Asn530_Asp531del
ENST00000644092.1:c.*85_*90del	ENSP00000496351.1:n.*85_*90del
ENST00000645339.1:c.1785_1790del	ENSP00000496441.1:p.Asn596_Asp597del
ENST00000645506.1:c.1785_1790del	ENSP00000495455.1:p.Asn596_Asp597del
ENST00000646415.1:c.1785_1790del	ENSP00000495543.1:p.Asn596_Asp597del
ENST00000233146.6:c.1785_1790del	ENSP00000233146.2:p.Asn596_Asp597del
ENST00000406134.5:c.1785_1790del	ENSP00000384199.1:p.Asn596_Asp597del
ENST00000543555.5:c.1587_1592del	ENSP00000442697.1:p.Asn530_Asp531del
ENST00000610696.4:c.*181_*186del	ENSP00000483159.1:n.*181_*186del
ENST00000613514.4:c.*325_*330del	ENSP00000484137.1:n.*325_*330del
ENST00000617333.3:c.*551_*556del	ENSP00000482468.1:n.*551_*556del
ENST00000617938.4:c.*757_*762del	ENSP00000481158.1:n.*757_*762del
ENST00000621359.2:c.1785_1790del	ENSP00000481416.1:p.Asn596_Asp597del
NM_000251.2:c.1785_1790del , LRG_218t1:c.1785_1790del	NP_000242.1:p.Asn596_Asp597del
NM_001258281.1:c.1587_1592del	NP_001245210.1:p.Asn530_Asp531del
XM_005264332.2:c.1785_1790del	XP_005264389.2:p.Asn596_Asp597del
XM_011532867.1:c.1785_1790del	XP_011531169.1:p.Asn596_Asp597del
XR_939685.1:n.1857_1862del
XM_005264332.4:c.1785_1790del	XP_005264389.2:p.Asn596_Asp597del
XM_011532867.2:c.1785_1790del	XP_011531169.1:p.Asn596_Asp597del
XR_001738747.2:n.1847_1852del
XR_939685.2:n.1847_1852del
NM_000251.3:c.1785_1790del MANE Select	NP_000242.1:p.Asn596_Asp597del